Canonical Allele Identifier: CA440228062

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207703T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286549T>A , CM000666.2:g.80286549T>A	GRCh38
NC_000004.11:g.81207703T>A , CM000666.1:g.81207703T>A	GRCh37
NC_000004.10:g.81426727T>A	NCBI36
NG_029501.1:g.24962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.684T>A MANE Select	ENSP00000311697.7:p.Ser228=
ENST00000312465.11:c.684T>A	ENSP00000311697.7:p.Ser228=
ENST00000456523.3:c.*208T>A	ENSP00000398353.3:n.*208T>A
ENST00000503413.1:n.633T>A
ENST00000507780.1:c.342+11537T>A	ENSP00000423903.1:n.342+11537T>A
NM_001291812.1:c.255T>A	NP_001278741.1:p.Ser85=
NM_004464.3:c.684T>A	NP_004455.2:p.Ser228=
NM_033143.2:c.*208T>A	NP_149134.1:n.*208T>A
NM_001291812.2:c.255T>A	NP_001278741.1:p.Ser85=
NM_004464.4:c.684T>A MANE Select	NP_004455.2:p.Ser228=